A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28216



Internal ID11045449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1235363..1240393hg38UCSC Ensembl
Innerchr10:1281299..1282456hg19UCSC Ensembl
Innerchr10:1271299..1272456hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg385031
hg191158
hg181158
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14020
SamplesNA18502, NA11995, NA11931, NA18916, NA12287, NA12156, NA12489, NA12878, NA18907, NA07045, NA18523, NA18858, NA18909, NA19108, NA18517, NA19129, NA18511, NA12776
Known GenesADARB2
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv28216
Frequency
Sample Size40
Observed Gain6
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer